Proven success at providing quality care to patients at home while lowering costs has both investors and health insurance companies intrigued
Some call it “hospital in the home.” Whatever name it is given, the high cost of keeping a patient overnight in a hospital is motivating a range of healthcare players to develop innovative ways to provide care to patients—even patients with acute conditions—in their home. This is a trend that clinical laboratories will want to watch.
With hospital beds costing $1,000 to $2,000 per night, the
economics of being treated in the comfort of their homes can be attractive to
patients. But it’s also popular with caregivers, investors, and payers, as well.
That’s why in-home healthcare services are becoming increasingly common
nationwide, and why clinical laboratories may be supplying services to more in-home
healthcare companies in the future.
One such company is DispatchHealth of Denver, Colo., which recently brought its “ER-at-Home” in-home healthcare model to cities in Texas, Massachusetts, and Washington State.
Focused primarily on seniors with high-acuity medical conditions, “Patients or caregivers contact DispatchHealth through their smartphone app, website, or phone call line and the company sends over a home care team consisting of a physician assistant or nurse practitioner, along with an [emergency] medical technician. The team has the ability to perform clinical laboratory studies, infusion, EKGs, and some higher-level procedures, such as the repair of complex lacerations,” MedCity News reported.
The DispatchHealth team arrives prepared to treat Influenza
(Flu), fever, joint or back pain, sprains, strains, eye infections, urinary
tract infections, skin rashes, and lacerations. The team also can treat more
severe conditions that cause nausea, vomiting, and diarrhea, as well as asthma
and other respiratory conditions, and illnesses of the ear, nose, and throat.
In addition, the DispatchHealth team can perform certain
clinical laboratory tests onsite, including:
High-acuity home care is a development that clinical
laboratory leaders will want to monitor because these services save people
trips to medical laboratories, urgent care centers, primary care doctors’
offices, and even emergency rooms.
“We strive to treat conditions between the ER and true emergencies—so COPD (chronic obstructive pulmonary disease) exacerbation, pneumonia, severe migraines, and other issues we can treat with IV (intravenous therapy) medication … and laboratory studies,” Mark Prather, MD, DispatchHealth Chief Executive Officer, told MedCity News, which noted the company’s partnership with Centura Health, Colorado Springs, Colo., among others.
Established in 2013 in Denver, DispatchHealth provides both
mobile and virtual healthcare, is in-network with healthcare insurance
companies, and has relationships with healthcare systems.
The company expanded this year into new markets and added
partnerships with more healthcare systems, including:
a “major nonprofit health system” in North Texas, according to a news release.
Through in-home care teams (such as shown above), DispatchHealth estimates delivery of acute care to about 80,000 patients nationwide in 2019 for a savings of $100 million in medical expenses. “Up to 50% of people who visit the emergency room every day could be treated in a lower cost setting,” said DispatchHealth Chief Executive Officer Mark Prather, MD, in a news release. (Photo copyright: Philips.)
In the Spokane market, the company’s six teams and two vehicles can see about seven patients per day for an average of 45 minutes to an hour per visit, reported the Spokesman-Review. DispatchHealth employs more than 200 people and has raised more than $33 million in growth capital financing, according to a company statement.
The project involved and recognized medical practices that
effectively and efficiently cared for Medicare beneficiaries with chronic
conditions at home.
More recently, Northwell Health Labs, a division of Northwell Health, launched LabFly, a smartphone app that enables patients to schedule blood draws at home or at work, according to a news release.
“The app is a new way to give our patients access to the quality experience they would receive at one of our patient service centers, but in their living room or place of work,” said Dwayne Breining, MD, Executive Director, Northwell Health Labs, in the news release.
Investors Are Intrigued with In-Home Care
The business of treating people in their homes or offices
has some investors excited at the opportunity.
“To us, this feels like we’re investing in Uber in 2010. This is going to revolutionize and change the entire healthcare industry,” Samir Patel, Principal and co-founder of IRA Capital told the New York Times. Patel was commenting on his firm’s investment in Heal, a Los Angeles-based in-home healthcare company that launched in 2014.
In response to being contacted by smartphone app, computer, or phone, Heal sends primary care doctors and medical assistants to treat people in their homes, workplace, or at hotels.
Heal estimates completion of more than 100,000 house calls in 2019 and savings in healthcare expenses of more than $53 million due to treating people in lower cost ways, a news release stated. The company said it has experienced a 310% growth rate over 12 months and now operates in Atlanta, Georgia, California, New York, North Virginia, and the District of Columbia.
“Ten years from now, we will think of going to the doctor’s office as dated and arbitrary as going to the store to buy diapers compared to buying diapers on Amazon,” Nick Desai, co-founder of Heal, told FierceHealthcare, which reported Heal had raised $71 million from investors.
Payers Are Onboard as Well
High-acuity home care services also seem to align with health insurance company benefits and new federal payment models. Heal’s website states their services are in-network with most Medicare Advantage plans. Heal’s smartphone app also can verify insurance coverage.
DispatchHealth explains on its website that it contracts
with major payers, including Medicare and Medicaid, and charges self-pay
customers $275.
Medical laboratory leaders should consider developing
relationships with high-acuity home healthcare companies and other care
providers that deliver care to people in unconventional ways and in
non-traditional locations.
Though medical laboratory testing is key to confirming sepsis, predictive analytics systems can identify early indications and alert caregivers, potentially saving lives
Medical laboratory testing has long been the key element in hospitals’ fight to reduce deaths caused by sepsis, a complication caused by the human body’s response to infection which can injure organs and turn fatal. But clinical laboratory testing takes time, particularly if infectious agents must be cultured in the microbiology lab. And sepsis acts so quickly, by the time the condition is diagnosed it is often too late to prevent the patient’s death.
One example is HCA Healthcare (NYSE:HCA), the for-profit corporation with 185 hospitals, 119 freestanding surgery centers, and approximately 2,000 sites of care in 21 US states and in the United Kingdom.
HCA employs an electronic information and alert system called SPOT (Sepsis Prediction and Optimization of Therapy), which is embedded in each hospital patient’s electronic health record (EHR).
SPOT receives clinical data in real time directly from
monitoring equipment at the patient’s bedside and uses predictive analytics to examine
the data, including medical laboratory test results. If the data indicate that
sepsis is present, SPOT alerts physicians and other caregivers.
With SPOT, HCA’s physicians have been detecting sepsis in
its earliest stages and saving lives. This lends support to the growing belief
that AI and machine learning can improve speed to diagnosis and diagnostic
accuracy, which Dark Daily has covered in multiple
e-briefings.
SPOT displays its data on screens that are monitored 24/7 (shown above). The clinical data include the patient’s vital signs as well as medical laboratory test results and nursing reports. HCA says the system has been used on about 2.5 million patients and has helped save up to 8,000 lives, Business Wire reported. (Photo copyright: HCA.)
Code Sepsis
HCA began developing the software in 2016. It was initially deployed in 2018 at TriStar Centennial Medical Center, HCA’s flagship hospital in Nashville,The Tennessean reported. It is now installed in most of the hospitals owned or operated by HCA.
Michael Nottidge, MD, is ICC Division Medical Director for Critical Care at HCA Healthcare Physician Services Group, and a critical care physician at TriStar Centennial. Nottidge told The Tennessean that unlike a heart attack or stroke, “sepsis begins quietly, then builds into a dangerous crescendo.”
Since its implementation, “[SPOT] has alerted clinicians to
a septic patient nearly every day, often hours sooner than they would have been
detected otherwise,” Nottidge told The Tennessean.
HCA’s SPOT system uses machine learning to ingest “millions of data points on which patients do and do not develop sepsis,” according to an HCA blog post. “Those computers monitor clinical data every second of a patient’s hospitalization. When a pattern of data consistent with sepsis risk occurs, it will signal with an alert to trained technicians who call a ‘code sepsis.’”
More Accurate than Clinicians
The federal Centers for Disease Control and Prevention (CDC) estimates that more than 250,000 Americans die from sepsis each year. The Sepsis Alliance describes the life-threatening complication as the “leading cause of death in US hospitals.”
Early detection and treatment are key to reducing sepsis mortalities. However, a study in the journal Clinical Medicine reported that, despite recent advances in identifying at-risk patients, “there is still no molecular signature able to diagnose sepsis.”
And according to a study published in Critical Care Medicine, the survival rate is about 80% when treatment is administered in the first hour, but each hour of delay in treatment decreases the average survival rate by 7.6%.
In an interview with Becker’s Hospital Review, HCA’s Chief Medical Officer and President of Clinical Services, Jonathan Perlin, MD, PhD, touted SPOT’s reliability, having “very few false positives. In fact, it is more than 50% more accurate at excluding patients who don’t have sepsis than even the best clinician.”
Perlin also told The Tennessean that SPOT can detect
sepsis “about eight to 10 hours before clinicians ever could.”
“It’s no coincidence that we call the technology ‘SPOT’—a common name for a child’s dog—because it really does act as our sepsis sniffer,” said Jonathan Perlin, MD, PhD (above), in the HCA blog post. “The whole point is for it to sniff smoke and put the ‘fire’ out before it becomes catastrophic. With SPOT, we’re identifying at least one-third more cases of sepsis that would not previously have come to caregivers’ attention until it was too late.” [Photo copyright: Nashville Business Journal.)
Other Healthcare Providers Using AI-Enabled Early-Warning
Tools
In November 2018, the emergency department at Duke University Hospital in Durham, N.C., began a pilot program to test an AI-enabled system dubbed Sepsis Watch, reported Health Data Management. The software, developed by the Duke Institute for Health Innovation, “was trained via deep learning to identify cases based on dozens of variables, including vital signs, medical laboratory test results, and medical histories,” reported IEEE Spectrum. “In operation, it pulls information from patients’ medical records every five minutes to evaluate their conditions, offering intensive real-time analysis that human doctors can’t provide.”
Earlier this year, Sentara Norfolk General Hospital in Norfolk, Va., installed an AI-enabled sepsis-alert system developed by Jvion, a maker of predictive analytics software. “The new AI tool grabs about 4,500 pieces of data about a patient that live in the electronic record—body temperature, heart rate, blood tests, past medical history, gender, where they live and so on—and runs it all through an algorithm that assesses risk for developing sepsis,” reported The Virginian Pilot.
Geisinger Health System, which operates 13 hospitals in Pennsylvania and New Jersey, is working on its own system to identify sepsis risk. It announced in a September news release that it had teamed with IBM to develop a predictive model using a decade’s worth of data from thousands of Geisinger patients.
“The model helped researchers identify clinical biomarkers associated with higher rates of mortality from sepsis by predicting death or survival of patients in the test data,” Geisinger stated in the news release. “The project revealed descriptive and clinical features such as age, prior cancer diagnosis, decreased blood pressure, number of hospital transfers, and time spent on vasopressor medicines, and even the type of pathogen, all key factors linked to sepsis deaths.”
So, can artificial intelligence and predictive analytics
added to medical laboratory test results help prevent sepsis-related deaths in
all hospitals? Perhaps so. Systems like SPOT, Sepsis Watch, and others
certainly are logging impressive results.
It may not be long before similar technologies are aiding
pathologists, microbiologists, and clinical laboratories achieve improved
diagnostic and test accuracy as well.
Experts list the top challenges facing widespread adoption of proteomics in the medical laboratory industry
Year-by-year, clinical
laboratories find new ways to use mass spectrometry to
analyze clinical specimens, producing results that may be more precise than
test results produced by other methodologies. This is particularly true in the
field of proteomics.
However, though mass spectrometry is highly accurate and
fast, taking only minutes to convert a specimen into a result, it is not fully
automated and requires skilled technologists to operate the instruments.
Thus, although the science of proteomics is advancing
quickly, the average pathology laboratory isn’t likely to be using mass
spectrometry tools any time soon. Nevertheless, medical
laboratory scientists are keenly interested in adapting mass spectrometry
to medical lab test technology for a growing number of assays.
Molly Campbell, Science Writer and Editor in Genomics, Proteomics, Metabolomics, and Biopharma at Technology Networks, asked proteomics experts “what, in their opinion, are the greatest challenges currently existing in proteomics, and how can we look to overcome them?” Here’s a synopsis of their answers:
Lack of High Throughput Impacts Commercialization
Proteomics isn’t as efficient as it needs to be to be
adopted at the commercial level. It’s not as efficient as its cousin genomics. For it to become
sufficiently efficient, manufacturers must be involved.
John Yates
III, PhD, Professor, Department of Molecular Medicine at Scripps Research California
campus, told Technology
Networks, “One of the complaints from funding agencies is that you can
sequence literally thousands of genomes very quickly, but you can’t do the same
in proteomics. There’s a push to try to increase the throughput of proteomics
so that we are more compatible with genomics.”
For that to happen, Yates says manufacturers need to
continue advancing the technology. Much of the research is happening at
universities and in the academic realm. But with commercialization comes
standardization and quality control.
“It’s always exciting when you go to ASMS [the conference for the American Society
for Mass Spectrometry] to see what instruments or technologies are going to be
introduced by manufacturers,” Yates said.
There are signs that commercialization isn’t far off. SomaLogic, a privately-owned American protein
biomarker discovery and clinical diagnostics company located in Boulder, Colo.,
has reached the commercialization stage for a proteomics assay platform called SomaScan. “We’ll be
able to supplant, in some cases, expensive diagnostic modalities simply from a
blood test,” Roy
Smythe, MD, CEO of SomaLogic, told Techonomy.
The graphic above illustrates the progression mass spectrometry took during its development, starting with small proteins (left) to supramolecular complexes of intact virus particles (center) and bacteriophages (right). Because of these developments, today’s medical laboratories have more assays that utilize mass spectrometry. (Photo copyright: Technology Networks/Heck laboratory, Utrecht University, the Netherlands.)
Achieving the Necessary Technical Skillset
One of the main reasons mass spectrometry is not more widely
used is that it requires technical skill that not many professionals possess.
“For a long time, MS-based proteomic analyses were technically demanding at
various levels, including sample processing, separation science, MS and the
analysis of the spectra with respect to sequence, abundance and
modification-states of peptides and proteins and false discovery rate
(FDR) considerations,” Ruedi
Aebersold, PhD, Professor of Systems Biology at the Institute of Molecular Systems Biology (IMSB) at
ETH Zurich, told Technology
Networks.
Aebersold goes on to say that he thinks this specific
challenge is nearing resolution. He says that, by removing the problem created
by the need for technical skill, those who study proteomics will be able to
“more strongly focus on creating interesting new biological or clinical
research questions and experimental design.”
Yates agrees. In a paper titled, “Recent Technical Advances in
Proteomics,” published in F1000 Research, a peer-reviewed open research
publishing platform for scientists, scholars, and clinicians, he wrote, “Mass
spectrometry is one of the key technologies of proteomics, and over the last
decade important technical advances in mass spectrometry have driven an
increased capability of proteomic discovery. In addition, new methods to
capture important biological information have been developed to take advantage
of improving proteomic tools.”
No High-Profile Projects to Stimulate Interest
Genomics had the Human Genome Project
(HGP), which sparked public interest and attracted significant funding. One of
the big challenges facing proteomics is that there are no similarly big,
imagination-stimulating projects. The work is important and will result in
advances that will be well-received, however, the field itself is complex and difficult
to explain.
Emanuel
Petricoin, PhD, is a professor and co-director of the Center for Applied
Proteomics and Molecular Medicine at George
Mason University. He told Technology
Networks, “the field itself hasn’t yet identified or grabbed onto a
specific ‘moon-shot’ project. For example, there will be no equivalent to the
human genome project, the proteomics field just doesn’t have that.”
He added, “The equipment needs to be in the background and
what you are doing with it needs to be in the foreground, as is what happened
in the genomics space. If it’s just about the machinery, then proteomics will
always be a ‘poor step-child’ to genomics.”
Democratizing Proteomics
Alexander
Makarov, PhD, is Director of Research in Life Sciences Mass Spectrometry
(MS) at Thermo Fisher
Scientific. He told Technology
Networks that as mass spectrometry grew into the industry we have today,
“each new development required larger and larger research and development teams
to match the increasing complexity of instruments and the skyrocketing
importance of software at all levels, from firmware to application. All this
extends the cycle time of each innovation and also forces [researchers] to
concentrate on solutions that address the most pressing needs of the scientific
community.”
Makarov describes this change as “the increasing democratization of MS,” and says that it “brings with it new requirements for instruments, such as far greater robustness and ease-of-use, which need to be balanced against some aspects of performance.”
One example of the increasing democratization of MS may be
several public proteomic datasets available to scientists. In European
Pharmaceutical Review, Juan
Antonio Viscaíno, PhD, Proteomics Team Leader at the European Bioinformatics Institute (EMBL-EBI)
wrote, “These datasets are increasingly reused for multiple applications, which
contribute to improving our understanding of cell biology through proteomics
data.”
Sparse Data and Difficulty Measuring It
Evangelia
Petsalaki, PhD, Group Leader EMBL-EBI, told Technology
Networks there are two related challenges in handling proteomic data.
First, the data is “very sparse” and second “[researchers] have trouble
measuring low abundance proteins.”
Petsalaki notes, “every time we take a measurement, we
sample different parts of the proteome or phosphoproteome and
we are usually missing low abundance players that are often the most important
ones, such as transcription
factors.” She added that in her group they take steps to mitigate those
problems.
“However, with the advances in MS technologies developed by
many companies and groups around the world … and other emerging technologies
that promise to allow ‘sequencing’ proteomes, analogous to genomes … I expect
that these will not be issues for very long.”
So, what does all this mean for clinical laboratories? At the
current pace of development, its likely assays based on proteomics could become
more common in the near future. And, if throughput and commercialization ever
match that of genomics, mass spectrometry and other proteomics tools could
become a standard technology for pathology laboratories.
These virtual office visits use artificial intelligence and text messaging to allow real physicians to diagnose patients, write prescriptions, and order clinical laboratory tests
Clinical laboratories may soon be receiving test orders from physicians who never see their patients in person, instead evaluating and diagnosing them through a smartphone app. In response to major changes in the primary care industry—mostly driven by consumer demand—mobile app developers are introducing new methods for delivering primary care involving smartphones and artificial intelligence (AI).
Medical laboratories and pathology groups should prepare for consumers who expect their healthcare to be delivered in ways that don’t require a visit to a traditional medical office. One question is how patients using virtual primary care services will provide the specimens required for clinical laboratory tests that their primary care providers want performed?
Two companies on the forefront of such advances are 98point6 and K Health, and they provide a glimpse of primary care’s future. The two companies have developed smartphone apps that incorporate AI and the ability to interact with real physicians via text messaging.
Virtual Primary Care 24/7 Nationwide
Dark Daily has repeatedly reported that primary care in America is undergoing major changes driven by many factors including increasingly busy schedules, the popularity of rapid retail and urgent care clinics, consumer use of smartphones and the Internet to self-diagnose, and decreasing numbers of new doctors choosing primary care as a career path.
Writing in Stat, two physicians who had just completed internal medicine residencies, explained their own decisions to leave primary care. In their article, titled, “We were inspired to become primary care physicians. Now we’re reconsidering a field in crisis,” Richard Joseph, MD, and Sohan Japa, MD, cited factors that include long hours, low compensation in comparison with specialty care, and deficiencies in primary care training. At the time of their writing they were senior residents in primary care-internal medicine at Brigham and Women’s Hospital in Boston.
They also pointed to a decline in office visits to primary care doctors. “Patients are increasingly choosing urgent care centers, smartphone apps, telemedicine, and workplace and retail clinics that are often staffed by nurse practitioners and physician assistants for their immediate health needs,” they wrote.
One solution to declining populations of primary care physicians is a smartphone app created by Seattle-based 98point6. The service involves “providing virtual text-based primary care across the entire country, 24/7 of everyday,” explained Brad Younggren, MD, an emergency physician and Chief Medical Officer at 98point6, in a YouTube interview. “It’s text-based delivery of care overlaid with an AI platform on top of it.”
The service launched on May 1, 2018, in 10 states and is now available nationwide, according to press releases. 98point6 offers the service through individual subscriptions or through deals with employers, health plans, health systems, and other provider organizations. The personal plan costs $20 for the first year and $120 for the second, plus $1 per “visit.”
Subscribers use text messaging to interact with
an “automated assistant” that incorporates artificial intelligence. While
messaging, they can describe symptoms or ask questions about medical topics.
“After the automated assistant has gathered as many
questions as it deems necessary, it hands [the information] off to a
physician,” Younggren said. In most cases, all communication is via text
messaging. However, the doctor may ask the subscriber to send a photo or participate
in a video meeting.
The doctor then makes a diagnosis and treatment plan. Prescriptions can be sent to a local pharmacy and the subscriber can be referred to a clinical laboratory for tests. LabCorp or Quest Diagnostics are preferred providers, but subscribers can choose to have orders sent to independent labs as well, states the company’s website.
Younggren claims the company’s physicians can resolve more
than 90% of the cases they encounter. If, however, they can’t resolve a case, they
can refer the patient to a local physician. And because most of 98point6’s
interactions with subscribers are text-based, that messaging serves as reference
documentation for other doctors, he said.
“We’ve set out to dramatically augment the primary-care physician with deep technology by delivering an on-demand primary-care experience,” Robbie Cape (above), CEO and co-founder of 98point6, told Modern Healthcare. (Photo copyright: Seattle Business Magazine.)
The 98point6 physicians are full-time employees and work with the company’s technologists to improve the AI’s capabilities, Younggren said. The company claims its doctors can diagnose and treat more than 400 conditions, including: allergies, asthma, skin problems, coughs, flu, diabetes, high blood pressure, and infections. For medical emergencies, subscribers are advised to seek emergency help locally.
98point6 also can function as a front end for interacting
with patients in health systems that have their own primary-care doctors,
Younggren said. The company’s health system clients “don’t actually have a good
digital primary care front end to deliver care,” he said. “So, we can
essentially give them that, and then we can also get some detailed
understanding of how to coordinate care within the health system to drive
patients to the care that they need.” For example, this can include directing the
patient to an appropriate sub-specialist.
Leveraging Patient Data to Answer Health Questions
K Health in New York City offers a similar service based on its own AI-enabled smartphone app. The app incorporates data gleaned from the records of more than two million anonymous patients in Israel over the past 20 years, explained company co-founder Ran Shaul, co-founder and Chief Product Officer, in a blog post.
The software asks users about their “chief complaint” and
then compares the answers with data from similar cases. “We call this group
your ‘People Like Me’ cohort,” Shaul wrote. “It shows you how doctors diagnosed
those people and all the ways they were treated.”
The K Health app is free, but for a fee ranging from $14 for a one-time visit to $39 for an annual subscription, users can text with doctors, the company’s website states.
Unlike 98point6, K Health’s doctors are employed by “affiliated physician-owned professional corporations,” the company says, not K Health itself.
“The doctor you chat with will discuss a recommended treatment plan that may include a physical exam, lab tests, or radiology scans,” states K Health’s website. “They may send you directly for some of these tests, but others will require you to visit a local doctor.”
These are just the latest examples of new technologies and
services devised to help patients receive primary care. How a patient who uses
a smartphone app gets the necessary clinical laboratory tests performed is a
question yet to be answered.
Clinical laboratory leaders will want to watch this shift in
the delivery of primary care and look for opportunities to serve consumers who
are getting primary care from nontraditional sources.
By offering DTC preventative gene sequencing, hospital leaders
hope to help physicians better predict cancer risk and provide more accurate
diagnoses
Two Boston health systems, Brigham and Women’s Hospital and Massachusetts General Hospital (MGH), are the latest to open preventative gene sequencing clinics and compete with consumer gene sequencing companies, such as 23andMe and Ancestry, as well as with other hospital systems that already provide similar services.
This may provide opportunities for clinical laboratories. However, some experts are concerned that genetic sequencing may not be equally available to patients of all socioeconomic classes. Nor is it clear how health systems plan to pay for the equipment and services, since health insurance companies continue to deny coverage for “elective” gene sequencing, or when there is not a “clear medical reason for it, such as for people with a long family history of cancer,” notes STAT.
Therefore, not everyone is convinced of the value of gene sequencing to either patients or hospitals, even though advocates tout gene sequencing as a key element of precision medicine.
Is Preventative Genetic Sequencing Ready for the Masses?
Brigham’s Preventive Genomics Clinic offers comprehensive DNA sequencing, interpretation, and risk reporting to both adults and children. And MGH “plans to launch its own clinic for adults that will offer elective sequencing at a similar price range as the Brigham,” STAT reported.
The Brigham and MGH already offer similar gene sequencing services as other large health systems, such as Mayo Clinic and University of California San Francisco (UCSF), which are primarily used for research and cancer diagnoses and range in price depending on the depth of the scan, interpretation of the results, and storage options.
However, some experts question whether offering the
technology to consumers for preventative purposes will benefit anyone other
than a small percentage of patients.
“It’s clearly not been demonstrated to be cost-effective to promote this on a societal basis,” Robert Green, MD, MPH, medical geneticist at Brigham and Women’s Hospital, and professor of genetics at Harvard, told STAT. “The question that’s hard to answer is whether there are long-term benefits that justify those healthcare costs—whether the sequencing itself, the physician visit, and any downstream testing that’s stimulated will be justified by the situations where you can find and prevent disease.”
Additionally, large medical centers typically charge more
for genomic scans than consumer companies such as 23andMe and Ancestry. Hospital-based
sequencing may be out of the reach of many consumers, and this concerns some
experts.
“The idea that genomic sequencing is only going to be
accessible by wealthy, well-educated patrons who can pay out of pocket is
anathema to the goals of the publicly funded Human Genome Project,” Jonathan
Berg, MD, PhD, Genetics Professor, University of North Carolina at Chapel
Hill, told Scientific
American.
And, according to the American Journal of Managed Care, “It’s estimated that by 2021, 100 million people will have used a direct-to-consumer (DTC) genetic test. As these tests continue to gain popularity, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory.”
This is why it’s critical that clinical laboratories and
anatomic pathology groups have a genetic testing and gene sequencing strategy,
as Dark
Daily reported.
David Bick, MD, Chief Medical Officer at the HudsonAlpha Institute for Biotechnology and Medical Director of the Smith Family Clinic for Genomic Medicine, told Scientific American, “there’s just more and more interest from patients and families not only because of 23andMe and the like, but because there’s just this understanding that if you can find out information about your health before you become sick, then really our opportunity as physicians to do something to help you is much greater.”
In an article he penned for Medium, Robert Green, MD, MPH (shown above counseling a patient), medical geneticist at Brigham and Women’s Hospital and professor of genetics at Harvard, wrote, “The ultimate aim of our Genomes2People Research Program is to contribute to the transformation of medicine from reactive to proactive, from treatment-oriented to preventive. We are trying to help build the evidence base that will justify societal decision to make these technologies and services accessible to anyone who wants them, regardless of means, education or race and ethnicity.” (Photo copyright: Wall Street Journal.)
Is Preventative Genomics Elitist?
As large medical centers penetrate the consumer genetic
testing market some experts express concerns. In a paper he wrote for Medium,
titled, “Is Preventive Genomics Elitist?” Green asked, “Is a service like this
further widening the inequities in our healthcare system?”
Green reported that while building the Preventive Genomics Clinic at Brigham, “we … struggled with the reality that there is no health insurance coverage for preventive genomic testing, and our patients must therefore pay out of pocket. This is a troubling feature for a clinic at Brigham and Women’s Hospital, which is known for its ties to communities in Boston with diverse ethnic and socioeconomic backgrounds.”
Most of Brigham’s early genetics patients would likely be “well-off,
well-educated, and largely white,” Green wrote. “This represents the profile of
typical early adopters in genetic medicine, and in technology writ large. It
does not, however, represent the Clinic’s ultimate target audience.”
More Data for Clinical Laboratories
Nevertheless, preventive genomics programs offered by large
health systems will likely grow as primary care doctors and others see evidence
of value.
Therefore, medical laboratories that process genetic
sequencing data may soon be working with growing data sets as more people reach
out to healthcare systems for comprehensive DNA sequencing and reporting.
Number of patients eligible for genome-driven oncology therapy is increasing, but the percentage who reportedly benefit from the therapy remains at less than 5%
Advances in precision medicine in oncology (precision oncology) are fueling the need for clinical laboratory companion diagnostic tests that help physicians choose the best treatment protocols. In fact, this is a fast-growing area of clinical diagnostics for the nation’s anatomic pathologists. However, some experts in the field of genome-based cancer treatments disagree over whether such treatments offer more hype than hope.
Prasad and his colleagues evaluated 31 US Food and Drug
Administration (FDA) approved drugs, which were “genome-targeted” or
“genome-informed” for 38 indications between 2006 and 2018. The researchers
sought to answer the question, “How many US patients with cancer are eligible
for and benefit annually from genome-targeted therapies approved by the US Food
and Drug Administration?”
They found that in 2018 only 8.33% of 609,640 patients with
metastatic cancer were eligible for genome-targeted therapy—though this was an
increase from 5.09% in 2006.
Even more telling from Prasad’s view, his research team concluded
that only 4.9% had benefited from such treatments. Prasad’s study found the
percentage of patients estimated to have benefited from genome-informed therapy
rose from 1.3% in 2006 to 6.62% in 2018.
“Although the number of patients eligible for genome-driven treatment has increased over time, these drugs have helped a minority of patients with advanced cancer,” the researchers concluded. “To accelerate progress in precision oncology, novel trial designs of genomic therapies should be developed, and broad portfolios of drug development, including immunotherapeutic and cytotoxic approaches, should be pursued.”
The graph above is based on data from a study published in Science titled, “Estimation of the Percentage of US Patients With Cancer Who Benefit from Genome-Driven Oncology,” co-authored by Vinay Prasad, MD, MPH, et al. (Image copyright: Science.)
A Value versus Volume Argument?
Hyman, who leads a team of oncologists that conduct dozens
of clinical trials and molecularly selected “basket studies” each year,
countered Prasad’s assertions by noting the increase in the number of patients
who qualify for precision oncology treatments.
As reported in Science, Hyman said during his AACR
presentation that Sloan Kettering matched 15% of the 25,000 patients’ tumors it
tested with FDA-approved drugs and 10% with drugs in clinical trials.
“I think this is certainly not hype,” he said during the
conference.
Hyman added that another 10% to 15% of patient tumors have a
DNA change that matches a potential drug tested in animals. He expects “basket”
trials to further increase the patient pool by identifying drugs that can work
for multiple tumor types.
The US National Institute of Health (NIH) describes “basket studies” as “a new sort of clinical studies to identify patients with the same kind of mutations and treat them with the same drug, irrespective of their specific cancer type. In basket studies, depending on the mutation types, patients are classified into ‘baskets.’ Targeted therapies that block that mutation are then identified and assigned to baskets where patients are treated accordingly.”
Are Expectations of Precision Medicine Exaggerated?
A profile in MIT Technology Review, titled, “The Skeptic: What Precision Medicine Revolution?,” describes Prasad’s reputation as a “professional scold” noting the 36-year-old professor’s “sharp critiques of contemporary biomedical research, including personalized medicine.” Nevertheless, Prasad is not alone in arguing that precision oncology’s promise is often exaggerated.
“Like most ‘moonshot’ medical research initiatives,
precision medicine is likely to fall short of expectations,” Joyner wrote.
“Medical problems and their underlying biology are not linear engineering
exercises and solving them is more than a matter of vision, money, and will.”
“Although some niche applications have been found for
precision medicine—and gene therapy is now becoming a reality for a few rare
diseases—the effects on public health are miniscule while the costs are astronomical,”
they wrote.
Hope for Precision Medicine Remains High
However, optimism over precision oncology among some industry leaders has not waned. Cindy Perettie, CEO of molecular information company Foundation Medicine of Cambridge, Mass., argues genome-directed treatments have reached an “inflection point.”
“Personalized cancer treatment is a possibility for more patients than ever thanks to the advent of targeted therapies,” she told Genetic Engineering and Biotechnology News. “With a growing number of new treatments—including two pan-tumor approvals—the need for broad molecular diagnostic tools to match patients with these therapies has never been greater. We continue to advance our understanding of cancer as a disease of the genome—one in which treatment decisions can be informed by insight into the genomic changes that contribute to each patient’s unique cancer.”
Prasad acknowledges genome-driven therapies are beneficial for some cancers. However, he told MIT Technology Review the data doesn’t support the “rhetoric that we’re reaching exponential growth, or that is taking off, or there’s an inflection point” signaling rapid new advancements.
“Right now, we are investing heavily in immunotherapy and heavily in genomic therapy, but in other categories of drugs, such as cytotoxic drugs, we have stopped investigating in them,” he told Medscape Medical News. “But it’s foolish to do this—we need to have the vision to look beyond the fads we live by in cancer medicine and do things in a broader way,” he added.
“So, I support broader funding because you have to sustain
efforts even when things are not in vogue if you want to make progress,” Prasad
concluded.
Is precision oncology a fad? Dark Daily has covered the advancements in precision medicine extensively over the past decade, and with the launch of our new Precision Medicine Institute website, we plan to continue reporting on further advancements in personalized medicine.
Time will tell if precision oncology can fulfill its
promise. If it does, anatomic pathologists will play an important role in
pinpointing patients most likely to benefit from genome-driven treatments.
One thing that the debate between proponents of precision
medicine in oncology and their critics makes clear is that more and better
clinical studies are needed to document the true effectiveness of target
therapies for oncology patients. Such evidence will only reinforce the
essential role that anatomic pathologists play in diagnosis, guiding
therapeutic decisions, and monitoring the progress of cancer patients.
